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Please note this is a beta version of the ClinGen Evidence Repository. This resource is intended to provide access to variant level evidence used and applied by ClinGen Variant Curation Expert Panels in the classification of variants. In this beta version, the evidence is limited to curation notes and referenced literature (PMIDs).

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NM_000277.2(PAH):c.464G>C (p.Arg155Pro)

CA229561

102687 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance

HGVS expressions

NM_000277.2:c.464G>C
NM_000277.1:c.464G>C
NM_001354304.1:c.464G>C
NM_000277.3:c.464G>C
ENST00000307000.7:c.449G>C
ENST00000549111.5:n.560G>C
ENST00000551988.5:n.530+10821G>C
ENST00000553106.5:c.464G>C
NC_000012.12:g.102866641C>G
CM000674.2:g.102866641C>G
NC_000012.11:g.103260419C>G
CM000674.1:g.103260419C>G
NC_000012.10:g.101784549C>G
NG_008690.1:g.55962G>C
NG_008690.2:g.96770G>C
NM_000277.2(PAH):c.464G>C (p.Arg155Pro)

Likely Pathogenic

Met criteria codes 4
PP3 PP4_Moderate PM2 PM3

Expert Panel

Evidence Links 1

Evidence submitted by expert panel
PAH VCEP
PAH-specific ACMG/AMP criteria applied: PM2: absent from ExAC, gnomAD, 1000G, ESP. PAGE MAF=0.00066; PP3: Deleterious effect predicted in SIFT, Polyphen-2, MutationTaster. REVEL=0.967; PP4_Moderate: Detected in a patient with classic PKU. Cofactor deficiency excluded. (PMID:10679941); PM3: Detected in trans with R408W (P) (PMID:10679941). In summary this variant meets criteria to be classified as likely pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM2, PP3, PP4_Moderate, PM3).
Met criteria codes
PP3
Deleterious effect predicted in SIFT, Polyphen-2, MutationTaster. REVEL=0.967
PP4_Moderate
Detected in a patient with classic PKU. Cofactor deficiency excluded.

PM2
absent from ExAC, gnomAD, 1000G, ESP. PAGE MAF=0.00066
PM3
Detected in trans with R408W (P)

Approved on: 2018-08-10
Published on: 2019-04-06
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